Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: HPS5 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000437437.1:p.Thr79Ser	CA379514880 ENST00000537258.1:c.236C>G CA379514883 ENST00000537258.1:c.235A>T